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Neuropediatrics 1981; 12(2): 181-191
DOI: 10.1055/s-2008-1059650
© Georg Thieme Verlag KG Stuttgart · New York

JOUBERT SYNDROME: CLINICAL AND POLYGRAPHIC OBSERVATIONS IN A FURTHER CASE

E.  Boltshauser , M.  Herdan , G.  Dumermuth , W.  Isler
  • Children's University Hospital, Steinwiesstr. 75, CH-8032 Zürich
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

To our knowledge, only 10 cases of Joubert syndrome have been published so far. In this paper, we drescribe the clinical, radiological (computerized tomography) and polygraphic findings in an additional patient. The female presented here is the product of consanguineous parents and a sibling of a previously reported infant. In addition to the well-known episodic tachypnea in an awake state, representing the clinical hallmark of this syndrome, this child also had bouts of tachypnea while asleep. Interestingly enough, these were confined only to non-REM sleep.

Key words

Cerebellar malformation - dysplasia of cerebellar vermis - mental retardation - respiration disorder - apnea

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